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Genetic Disease Foundation Encourages Americans to Know Their Genes at KnowYourGenes.org in Observance of World Rare Disease Day
Date:2/28/2010

role in getting to know and understand their genes, be it through education, genetic testing or by speaking with a genetic counselor.”

Genetic diseases are caused by abnormalities in a person’s DNA and can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes. These abnormalities can disrupt the normal function of a vital system, such as the immune system or the nervous system, or prevent normal development of organs, bones or skin, significantly increasing a person’s chance of developing a particular disease.

It’s In Your Genes: Genetic Testing and Your Health

Genetic testing can reveal whether a person carries gene mutations associated with certain inherited diseases. The test involves analyzing blood, tissue or saliva for evidence of genetic abnormalities. Genetic tests typically fall into three categories: carrier screening to determine whether adults carry a gene mutation that could cause disease in their children, prenatal diagnostic to learn if a fetus is affected and predictive testing to discover the presence of gene mutations that may put a person at a higher risk for a particular disease, such as cancer or diabetes.

The purpose of genetic testing is to allow for early detection, which in turn can lead to early intervention to prevent the onset of symptoms or minimize disease severity. Genetic testing has helped thousands of individuals and families prevent or prepare for hereditary diseases and make informed decisions about their healthcare. However, because of the physical and emotional implications associated with a genetic disease diagnosis, many people prefer not to know that they may be at risk. The Genetic Disease Foundation found that 63 percent of those surveyed did not know if they or someone in their family had a genetic disorder. In addition, the survey revealed that preferring to not know about their risk for a gen
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Genetic Disease Foundation Encourages Americans to Know Their Genes at KnowYourGenes.org in Observance of World Rare Disease Day
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